GLOBAL
  GENES BLOG HOP


As I write this blog this morning for the Global Genes blog hop,
(http://rareproject.org/blog)
 I can’t help but think about how many
are affected by rare diseases and how thankful that my daughter’s disease has a
treatment and we found it in time. 



 Statistics:


1.     
An
estimated 350 million people worldwide who are affected by rare diseases.



2.     
1
out of 10 Americans is affected by rare disease; however only an estimated 8,000
are affected by Addison’s disease.


3.     
There
are more than 7,000 rare diseases with some affecting less than 100 people and
75% of rare diseases affect children. Addison’s disease is more commonly found
in adults and is rarer in children.


4.     
Almost
80% of rare diseases are genetic in origin.


5.     
These
rare conditions are chronic, life threatening and FATAL. There are NO cures for
any rare disease and only 5% of diseases have any type of
treatment.


6.     
Over
50% of Rare Diseases have no foundations, advocacy group or community
support.


Take Action:


1.     
Help
unite 1 Million for RARE on the
Global Genes Project Facebook page so that we can increase awareness to the rare disease community.

 2.     Wear that You Care (using jeans to call attention to genes that can cause rare disease) on World Rare Disease Day and encourage others to do so too. Include your school, support teams, places of worship, friends, family, and coworkers! Share your photos on Facebook. Tag Global Genes Project.

 3.     Donate a bracelet to the 7000 bracelets for Hope campaign and bring hope to a child/family living with rare
disease.

 4.     Are you living with rare? Sign up to receive one to the 7000 Bracelets via the Global Genes website and also join the R.A.R.E. network. 
 
My Story:


After three years of struggling trying to find out why my daughter’s stomach kept hurting, she was dizzy, weak, vomiting, and underweight. We were denied services by what is known as one of Texas’ best children’s hospitals because all of her labwork looked “normal.”   You see, that was the whole problem Kyra looked normal physically and medically speaking.  She still looks “normal.”  October 2010, Kyra had been vomiting for about three days straight.  She could hardly get up and move around.  We had an appointment finally with an endocrinologist. I
had to carry her into the office. Keep in mind this is a 10 year old girl but she only weighed 70 pounds.  I laid her down on a double chair that was in the office.  The only thing she could so was sleep and vomit. When we got in to see the doctor, he was doing her routine vital signs, blood pressure laying, sitting, standing and standing after 10 minutes.  She did good on all until she was required to continue standing.  After 2 minutes of standing she went limp.  The doctor immediately changed his treatment plan from looking at hypoglycemia to adrenal insufficiency. 
She began treatment that same day and what a drastic improvement it was!  It has been just a little over a year since that fateful day.  We have had a rollercoaster ride before and since then but I am so thankful to still have my daughter by my side.  She is active, plays softball and barrel races.  She is now almost 5’4” and weighs 105 pounds. She is healthy, as healthy as someone with a rare disease can be anyway.  We have good days and bad days.  Minor injuries require stress doses of corticosteroids.  For example, on Saturday, she fell and got a HUGE splinter in her thumb.  After trying for over an hour to get it out before being successful, she required a stress dose because she was crashing from her Addison’s.  
 
We have learned to appreciate life that God has given us. We take one day at a time and are thankful for the good days.  
 
For more information on Addison’s disease check out NADF at
www.nadf.usor the KYRA Foundation at www.kyrafoundation.weebly.com 

Check out the other RARE bloggers at: http://www.linkytools.com/thumbnail_linky_include.aspx?id=127101 
  

Kyra has been complaining of her legs itching when she stands. Her legs seem to be fine as long as she is moving around.  With prolonged standing, her legs go numb and actually turn colors, sometimes red, sometimes a purple/blue color.  After many doctor visits and lots of "I don't know why she is having this problem" answers we ventured back to the doctor again.  This time the answer we recieved was liver and kidney function tests, CT scan arteriogram of the lower extremities and Ankle-brachial index tests to rule out vascular problems.  As you probably already know the internet can be a wealth of information and also a hinderence.  If you search for ABI test you will find that it is the number one test for Peripheral Artery disease.  So here we are with an active, beautiful 11-year old girl who wants to be like everyone else but has these challenges to overcome.  As a mom, I just want to take all of her problems away from her and give them to myself.  Instead of that option, I get to hold her hand and tell her how prooud I am of her and that we will get through this together!  It is one of the hardest jobs that I have had, to be strong for her knowing that inside I am terrified for her!  Throughout all of this her only concern has been to help others with Addison's so that they have a chance not to have as many challenges as we have had even though I know that we have it really well compared to others with Addison's disease.  

I guess that I have rambled enough for one night.  I know that God has her in his hands and has been carrying her for her entire life and will continue to carry her and us through this.

Kyra had her routine followup with her endocriologist on Friday.  I left there just as confused as we were before we went in.  Since April 22, her last visit, we have had to stress dose approximately 15 - 20 times, she has had an increase in her headaches, still craving ice cream, had a week ago something that looked like a red rash on half of her leg.  So I went in with questions that needed answers.  (Please don't take me wrong, her Endo is great with her and makes her responsible for her treatment.) Our answers, however, consisted of "I don't know why she is doing that, consult your primary care physician" and lab work of a low potassium to recheck in four weeks with a routine follow up with the Endo in October.  I feel like we have found out what is wrong and why Kyra was so sick but that we are still beating our heads against a wall when it comes to the "little things" with this disease.  Maybe I am just a frustrated mother.  Afterall, I have read where so many cannot be out in the heat or even go outside and my daughter is fighting to stay active.  With that being said,we have had to make some drastic changes in how we do the outside activities, providing more water and electrolytes, even pedialyte singles added to the water, the neurosports drinks, and us being more aware of what she is doing and drinking.  Big picture still is that she is able to go and do and for that I am thankful! 

This week has been extremely busy for us.  Kyra has had softball practice everyday with scorching heat between 100-102 and heat indexes even higher.  Practices are going until dark; therefore, supper and baths and everything else are being pushed back including bedtimes after 10 but hopefully before 11.  Kyra has been moody, tired, mild stomach pain (last night only) and a little sick for about 5 days now.  We are stress dosing and hoping that she gets better soon.  It is so hard to tell when she is starting to get sick because of the steriods masking minor sicknesses, including allergies. Praying that we get this under control because we do not have a break in our baseball/softball schedule until the middle of July. 

What would you participate in?
1. silent auction
2. regular auction
3. dinner/tea/brunch
4. walk/run
5. straight donation to bank
6. other suggestions

Well we have been going strong for a couple of weeks now.  All three of the kids made the baseball/softball all-stars teams for their age divisions. Kyra has practice four days a week for about two hours a day.  We have crazy busy schedules until the end of July. No complaints here though.  I love this time of the year, minus the Texas heat. 

Speaking of heat, we had a "cool" day today, only getting up to 95.  Its been over 100 for several days with high UV warnings. 

We found this new drink, since Gatorades have an adverse reaction with Kyra.  Its called Neurosport.  Personally, I think it tastes horrible but Kyra loves it!  Guess that's good since she responds well to it.  Its sodium and potassium levels are almost equal but it has other minerals in it to help replenish fluid loss due to sports.  She had a tournament last weekend and played four games in about a 24 hour time frame with no complications.  I did give her an extra 1/2 pill of hydrocortisone (2.5 mg) and she drank the Neurosports drinks, only 2 of themthou

Yesterday's walk was a SUCCESS, thanks to everyone who participated, the walkers, vendors, and volunteers!  I appreciate all of you taking the time for my daughter!  We were honored to have not only Kyra there but also another young lady who has been fighting Addison's for four years, Jennifer. 

Today,  we let Kyra sleep until she woke up on her own, which to my surprise was around 11.  I fully expected her to sleep the majority of the day especially after completing six miles yesterday.  Today, she has a dress rehersal at church for her program then immediately after the rehersal is the play.  We are trying to make this a low-key easy kind of day for her as this next week

After giving Kyra a mild stress dose (1/2 pill) extra yesterday afternoon to help with her "sleepiness," she seemed to perk up and played a great softball game.  Today, I recieved a call from the school telling me that she had just come in from recess where she had been running and her resting b/p was 106/49 & HR was 100, standing B/P was 90/40 and HR was 118.  It is days like this that make me wonder if she is sick or is this the new "normal" that we have to get used to.